Like any new mom, Deborah Purcell was thrilled when she gave birth in 2004. Her son, Trey, seemed to be in perfect health. But as time went on, Purcell and her husband, Ryan, found themselves taking him to the doctor’s office over and over again for seemingly minor ailments: ear infections and colds that lingered. Finally, a new pediatrician ordered tests on Trey’s liver and spleen.
In 2006, just before he turned two, Trey was diagnosed with Mucopolysaccharidosis type II. Also known as Hunter syndrome, the rare degenerative condition is a lysosomal storage disease caused by a lack of enzymes that normally eliminate unwanted substances in the body’s cells. As a result, deposits accumulate in the cells, which end up damaged or unable to function efficiently.
The condition leads to a range of serious health problems, including skeletal deformity, reduced cardiac function, obstructive airway disease, hearing and vision loss, and physical and mental retardation. It affects mainly males, and there is no cure. According to the Canadian MPS Society, people with the disease have an expected life span of 10 to 20 years.
“We cried and cried and cried and cried,” Purcell says in a phone interview. “When you get that diagnosis, it feels like the world is over.”¦You get to the point where you feel like you’re drowning, like you can’t find air.
“All we heard were things like enlarged organs. Claw hands. Mental retardation. Early death. Won’t be able to walk. Heart problems. Early death.”¦This kid you thought was fine”¦”
Trey, now six, has astounded his family time and again with his physical and mental strength and his generous spirit. He plays T-ball and street hockey, loves cooking and gardening, and enjoys playing with his two younger siblings and neighbourhood kids.
But he wears a hearing aid, his speech is delayed, and his bones are changing. Once a week, he goes to B.C. Children’s Hospital for enzyme-replacement therapy.
Purcell notes that Trey is one of the lucky ones who have access to the treatment. Although the drug Elaprase is approved for use in Canada, it’s not available to everyone because the country doesn’t have what’s known as an orphan drug policy.
An “orphan” disease is one that the pharmaceutical industry hasn’t “adopted”. Since rare diseases only affect a small percentage of the population, there’s no incentive for drug companies to develop medications and bring them to market. In some countries, setting aside money or incentives for research, treatment, and prevention of rare disorders—those affecting fewer than 200,000 people, of which there are more than 5,000 examples—is a matter of public policy. Such legislation exists in the United States, Japan, Australia, and the European Union, but not here.
In 1997, Health Canada specifically rejected the need for an orphan drug policy, according to the Canadian Organization for Rare Disorders. Currently, funding for medications for rare disorders is determined by the provinces individually. For people who happen to live in a place where funding hasn’t been approved for a drug they desperately need, they’re either out of luck or they go broke trying to get it. CORD is lobbying for a Chance for Life fund, which would set aside two percent of total annual public drug expenditures for the treatment of rare diseases. (More information on orphan drug policy can be found at raredisorders.ca/.)
Although enzyme-replacement therapy has helped slow down the effects of Trey’s disease, it’s not a cure, a fact that is heartbreaking to his parents and those around him.
“It’s progressive,” Purcell says. “Every day counts. Every day matters. We can’t wait for a cure.”
To better understand MPS II—and help find ways to overcome it—the Purcells are raising funds for research into the disease. The family’s annual fundraiser, Tacos for Trey, is taking place this Saturday (May 8) from 3 to 6 p.m. at Lynn Valley Elementary School (3207 Institute Road, North Vancouver). Admission to the family-friendly event, which will have a silent auction, crafts, parachute games, and Mexican food and music, is by donation. (More information on the event and on Hunter syndrome can be found on the family’s Web site at www.treypurcell.com )
There are many unknowns about the condition. Purcell still can’t say for certain whether Trey’s brain will be ravaged by the condition or if its terrible effects will be purely physical. It’s a waiting game no parent ever wants to play.
Purcell admits that there are days when, just like when the family first learned of Trey’s diagnosis, they cry and cry and cry and cry. But her son relentlessly lifts her up out of despair.
“He has a very thoughtful personality,” she says. “He’s awesome. I believe in him and I love him. It’s about finding hope and holding on to that hope.”